Kornimate/medical-research-clean huggingface dataset:
the burden of primary caregivers of spinal muscular atrophy patients and their needs

Conditions: Spinal Muscular Atrophy; Caregiver Burden

Summary: the purpose of this study is to assess carer burden, needs, and expectations of spinal muscular atrophy parents

spinal muscular atrophy (sma) is a group of neuromuscular diseases involving the spinal cord anterior horn cells and brain stem motor nuclei. it is followed by programmed cell death. it progresses with symmetrical weakness and atrophy of voluntary muscles throughout the body. it leads to a decrease in mobility with progressive loss of power, and pulmonary function impairment with the involvement of the respiratory muscles. families who are confronted with these problems that arise after the birth of the baby or shortly after birth have a serious adaptation problem. when the course of the disease and its incurability are explained, patients and their families are under severe stress. physical and emotional health is worse than normal healthy growing children's parents. they need information, psychological and social support. the role of the family is very important in the life of children with disabilities. family-oriented care; has been developed to facilitate the care process of children with special needs and to help their families. the main characteristics of the family-oriented approach are that families know their children in the best way, that each family is unique and different, and that family and community support is provided for the child's functionality. the assessment of family function helps the planning and management of treatment according to the concerns of the family. the education of the family, the socio-cultural structure and the psychological approach of the parents play an important role in the development of the child with sma. the aim of this study was to evaluate the care burden, needs and expectations of sma parents and to reveal the problems clearly; so that this information can be used in rehabilitation planning and interpretation of results.

Eligibility criteria:
inclusion criteria: 1. patients with spinal muscular atrophy at between the ages of 0-18 2. agree to participate in the study exclusion criteria: 1-refuse to participate in the study

Keywords: spinal muscular atrophy caregiver burden disabled persons caregivers
the role of nlrp gene family (nlrp1~14) in recurrent miscarriage and infertility

Conditions: Miscarriage, Recurrent; Infertility

Summary: development of mole was not associated with segregation of mutated nlrp7 allele in the haploid oocyte. we hypothesize nlrp7 is a maternal factor involved in regulating early embryo development or embryo-uterine interaction. in the proposed study, we seek to identify novel genetic variants and mutations of nlrp7 in women who experienced rm/hm. genetic association study and haplotype analysis are performed to test assocation between nlrp7 gene and female reproductive performance. immunohistochemical staining, rt-pcr, and western blot analysis are used to investigate expression pattern of nlrp7 in endometrium and placenta. two approaches are used to characterize functional significance of genetic variants/mutations. the first approach will be based on mutagenesis and the second approach will be based on induced pluripotent stem cells (ipscs). results obtained from the proposed study will provide novel insight into mechanism of embryo development and implantation.

recurrent miscarriage (rm), defined as at least two consecutive fetal death or spontaneous abortions before the 20th week gestational age, occurred in about 1% to 5% couples. the causes of rm include uterine factors, endocrine factors, thromobophilic factors, immunologic factors and genetic factors. the hydatidiform mole (hm) can be divided into two separate syndromes: complete mole (chm) and partial mole (phm). in the west, chms occur in approximately 1 in every 1500 pregnancies. the incidence is higher in latin america, southeast asia and the middle east. the cause of rm and hm are not known for the vast majority of cases. the nlrp (nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing) family, also referred to as nalp family, is well known for its roles in apoptosis and inflammation. expression studies showed that twelve of the fourteen members of nlrp family express differentially in human oocytes and preimplantation embryonic cells, especially nlrp7, indicating important role of nlrp family in female reproduction. since 2006, mutations of nlrp7 have been found in women with repeated occurrence of molar pregnancy, repeated stillbirth or early spontaneous abortion. in women who experienced rm/hm, we also found some novel mutations/genetic variants of nlrp7. taken together, these finding suggest rm and hm may share the same genetic etiology in some cases. in addition, nlrp7 is a strong candidate gene for rm/hm. a recent report showed chaotic cleavage abnormalities of embryos in patients with nlrp7 variants.

Eligibility criteria:
inclusion criteria: recurrent abortions and infertility treatments but combined with repetitive (more than two consecutive) implantation failure couples, rather than general infertility couples. exclusion criteria: women who do not have recurrent miscarriage and infertility problems.

Keywords: recurrent miscarriage infertility
an applicative on-line eeg tool for enhancing treatment efficacy

Conditions: Stroke Rehabilitation

Summary: the purpose of this study is to investigate the efficacy of a simple and easy to use tool that can extract relevant attention-related markers - brain engagement index (bei) from ongoing eeg. during standard rehabilitative physical therapy sessions.

this research aims at assessing and fine tuning the effectiveness of a unique tool for online guidance of neural rehabilitation. the tool monitors patient attention level and guides the therapist online regarding the effectiveness of the current exercise employed. it is well established that maintaining a high level of attention plays a major role in the clinical outcome in rehabilitation. the monitoring is achieved using a cheap and simple to use eeg system and a breakthrough signal processing algorithm. the feedback provides the caregiver and patient with online information regarding the effectiveness of attention recruited during a given exercise. furthermore, the investigators are developing and fine-tuning a set of guidelines to attain optimal attention levels. these guide lines include : choosing an appropriate goal/movement for each patient; regulating the optimal degree of effort by changing the difficulty level of the exercise, changing the exercise or suggesting a short rest period; integrating supportive exercises such as stretches, strengthening of stabilizers normalization of muscle tone, sensory stimulation etc. which may enhance the performance of the target goal/movement; motivating patients to exert more effort; and taking advantage of the quality control aspect of the bei index in-order to augment attention of both therapist and patient.

Eligibility criteria:
inclusion criteria: * patients after stroke willing exclusion criteria:

Keywords: stroke on-line eeg bei index attention rehabilitation
uremic toxin removal and hemodynamics in long-hour hemodialysis and hemodiafiltration

Conditions: Uremic Toxins; Haemodynamic Stability

Summary: rationale: the mortality of end-stage renal disease (esrd) patients on dialysis remains high. this may at least be partly due to the insufficient removal of (especially protein-bound) uremic toxins which have been associated with cardiovascular morbidity and mortality. it is unknown whether the combination of long-hour haemodialysis (hd) with convection increases the removal of these toxins. long-hour hd and long-hour haemodiafiltration (hdf) may also improve haemodynamic stability which is an important factor in treatment quality. the investigators aim to study the removal of uremic toxins in long-hour hd and hdf and to compare the haemodynamics between 4-hour and 8-hour hd and hdf. objectives: the primary aim is to study the removal of (especially protein-bound) uremic toxins in 4-hour and 8-hour hd and hdf. a secondary aim is to compare the haemodynamic response between 4-hour and 8-hour hd and hdf.


Eligibility criteria:
inclusion criteria: * prevalent conventional hd patients * av-fistula enabling double-needle vascular access with blood flow rate of at least 350 ml/min * informed consent * age more than 18 years exclusion criteria: * withdrawal of consent * acute intercurrent illness (infection, malignancy, cardiovascular event, uncontrolled diabetes)
to evaluate the impact of oral flecainide on quality of life in patients with paroxysmal atrial fibrillation

Conditions: Atrial Fibrillation

Summary: the purpose of this study is to evaluate the management of paroxysmal atrial fibrillation with controlled release flecainide on patient's quality of life.


Eligibility criteria:
inclusion criteria: * in sinus rhythm at treatment initiation * experienced symptomatic af episodes * left ventricular ejection fraction of at least 40% * females of child bearing potential must be using reliable method of contraception exclusion criteria: * intolerance and/or failure of previous therapy with flecainide immediate release * currently receiving \>200mg/day flecainide immediate release * severe symptoms during episodes of arrhythmia * history of other cardiac conditions/abnormalities * heart surgery within the last 2 months * renal failure * pregnant or lactating females * significant extra cardiac or systemic disease * abnormal electrolyte levels * receiving defined cardiac and/or other treatments

Keywords: tambocor paroxysmal atrial fibrillation quality of life
urinary and anorectal functional disorders and their impact on cf adults (perineomucormo)

Conditions: Cystic Fibrosis

Summary: this observational study evaluates prevalence of functional perinea disorders (stress urinary incontinence, overactive bladder syndrome, dysuria, anal incontinence) on cf adults patients of the north-west cf network. its aims are to measure the severity of urinary and anorectal symptoms ; assess their impact on patients' quality of life, sexuality, care and social life and relationships ; identify the medical and demographic factors associated with the severity of urinary and anorectal disorders and their impact and determine the relationship between the severity of these disorders, various repercussions, and risk factors.

urine and/or anal leakage are more frequent and troublesome for cf patients: leaks occur during efforts or laugh like in other people, but also when coughing or sneezing, which are amplified during periods of exacerbation and with the degradation of the pulmonary condition. in addition, fear of leakage can disrupt medical care: discomfort during physiotherapy, pulmonary function test. urinary and anorectal functional disorders are therefore not only a factor degrading the quality of life but also a risk factor for worsening bronchial obstruction, patients limiting their cough and / or their care to avoid episodes of leakage. given the lack literature data, investigators wanted to explore these areas. validated and specific questionnaires will be self and anonymously administered to adult patients (n=175). the time requested to fill the forms is estimated to 1h. questionnaires about sexual health are optional. prospects considered, depending on the results, are: * extension to the adolescent population (14 and over); * national extension; * systematic proposal of a screening and an appropriate management of pelvic floor functional disorders, depending on influent characteristics (age, gender ...): multidisciplinary working group to develop guidelines and specific tools for professional training and / or patient education; * implementation of a comparative study of interventions.

Eligibility criteria:
inclusion criteria: * men and women 18 years and over * cystic fibrosis confirmed by sweat test or genetic * followed in an adult or mixed cf center of the french north-west cf network * not transplanted and not entered on the waiting list for transplantation * in a stable condition for at least 4 weeks * able to understand and respect the protocol and its requirements * who signed the consent prior to any other procedure protocol exclusion criteria: * major patients under guardianship / curatorship * patients seen in emergency situation * pregnant patients * dialysis patients * patients with urolithiasis * patients with severe exacerbation at the time of inclusion * patients on intravenous antibiotics within 4 weeks prior to inclusion * patient with an urinary tract infection (evaluation by dipstick at the time of inclusion

Keywords: urinary incontinence anal incontinence sexuality quality of life
pre-clinical cardiac dysfunction among asymptomatic hypertensive patients

Conditions: Hypertension; High Blood Pressure; Ventricular Hypertrophy; Diastolic Dysfunction; Systolic Dysfunction

Summary: this project will evaluate the clinical and cost effectiveness of a novel, multidisciplinary approach to identify and treat pre-clinical cardiac dysfunction (pccd) in asymptomatic hypertensive patients identified in a single center urban emergency department. premature onset of pressure-related cardiac complications of hypertension (especially heart failure) has important implications for long-term survival, quality of life and healthcare costs. this project will target patients who have already developed pressure-related cardiac structural abnormalities yet remain symptom free. these individuals are at tremendous risk for progression to clinically overt heart failure and its associated consequences. we hypothesize that detection and treatment of patients with hypertension who have pre-clinical structural cardiac damage will enable forestallment of the disease process and offer the opportunity to reduce the burden of cardiac morbidity associated with hypertension. this project will implement a program to prospectively identify pccd (using echocardiography) and provide treatment. at present, the optimal blood pressure goal for patients with pccd is unknown so this study will randomize patients to 2 levels of blood pressure control: "normal", which is consistent with current national guidelines and "intensive", which will aim for a markedly lower blood pressure (\< 120/80). enrolled patients will receive active treatment and follow-up for 1 year. at the end of 1 year, we will evaluate: 1) the ability of this program to achieve blood pressure goals; 2) the cost effectiveness; and 3) the proportion in each blood pressure group who have evidence of disease regression on echocardiography.


Eligibility criteria:
inclusion criteria: * blood pressure \> or = 140/90 after 1 hour * asymptomatic state as defined by goldman specific activity scale exclusion criteria: * dyspnea (exertional or nocturnal) or chest pain as a primary or secondary chief complaint * prior history of heart failure, coronary artery disease, myocardial infarction, cardiomyopathy, valvular heart disease or renal failure (with current, previous, or planned future dialysis) * patients with acute illness or injury which necessitates hospital admission * standing relationship with usual source of health care (i.e., primary care provider)

Keywords: hypertension high blood pressure pre-clinical cardiac dysfunction
effects of mdma on social and emotional processing

Conditions: Drug Addiction

Summary: the main aim of the study is to investigate the effects of ±3,4-methylenedioxymethamphetamine (mdma; ecstasy) on social and emotional processing in healthy humans. ecstasy is a widely used recreational drug, with over 2 million americans reporting use of the drug in 2006. with this number of users, and evidence that high doses of mdma are neurotoxic in laboratory animals, the public health implications of ecstasy use may be substantial. certain subjective effects of this drug distinguish it from other stimulants, and may contribute to its widespread use: that is, users report that ecstasy produces profound feelings of empathy and closeness to others. these so-called 'empathogenic' effects, which may reflect the distinctive neurochemical profile of action of the drug, have yet to be characterized in controlled laboratory studies. the investigators propose to characterize the effects of mdma on measures of social and emotional processing that may contribute to this 'empathogenic' profile, including measures of emotion recognition, emotional responsiveness and sociability. the investigators will assess effects of mdma (0, 0.75 and 1.5 mg/kg up to 125 mg) one active control drug (oxytocin: 20 iu) in 100 volunteers who report some prior ecstasy use. oxytocin will be used because it appears to produce pro-social behavioral effects resembling those attributed to mdma.


Eligibility criteria:
inclusion criteria: * 18-35, * healthy, * normal weight, * high school education, * normal electrocardiogram, * no psychiatric disorders, * occasional mdma use exclusion criteria: * current medications, * night shift work, * abnormal electrocardiogram, * medical problems
a study of ly4100511 (dc-853) in adult participants with moderate-to-severe plaque psoriasis

Conditions: Plaque Psoriasis

Summary: the main purpose of this study is to assess the safety and efficacy of ly4100511 in adult participants with moderate-to-severe plaque psoriasis.


Eligibility criteria:
inclusion criteria: * clinical diagnosis of plaque psoriasis for 6 months before the baseline day 1 randomization * must have a body mass index (bmi) of 18 to 40 kilogram/square meter (kg/m2) (inclusive). * must be willing to discontinue topical and/or systemic therapies for psoriasis before the first dose of study intervention. * must agree to avoid prolonged exposure to the sun and to refrain from the use of tanning booths, sun lamps, and other sources of ultraviolet light during the study exclusion criteria: * have had a clinically significant flare of psoriasis during the 12 weeks before the baseline, as assessed by the investigator. * have a history of erythrodermic psoriasis, generalized or localized pustular psoriasis, predominantly guttate psoriasis, or medication-induced or medication-exacerbated psoriasis. * have any known or suspected diagnosis of inflammatory conditions other than psoriasis and psoriatic arthritis, including but not limited to rheumatoid arthritis, sarcoidosis, ibd (crohn's disease or ulcerative colitis), or systemic lupus erythematosus. * have a diagnosis of psoriatic arthritis requiring, or are currently receiving, systemic immunosuppressant medical treatment (including corticosteroids, immunosuppressants, and biologics). * have a current or recent acute, active infection. participant must have no symptoms or signs of confirmed or suspected infection and must have completed any appropriate anti-infective treatment for at least 30 days before screening and up to randomization/baseline.
comparing olanzapine and mirtazapine in the improvement of unintentional weight loss for patients with advanced stage cancer

Conditions: Anorexia Nervosa with Significantly Low Body Weight

Summary: to determine whether olanzapine or mirtazapine is more effective in preventing weight loss and appetite loss in cancer patients.

olanzapine and mirtazapine have been used in the past few years to attempt to prevent weight and appetite loss in cancer patients. both have mixed study results and none of the previous studies are of high enough quality to make clinical recommendations. with limited options available, palliative and oncology providers turn to these medications with little evidence. there are no formal studies comparing the two to determine if one is superior to the other, so choices are often made based purely on provider preference. we aim to conduct a study to determine if one of the drugs outperforms the other to guide our standard practice at englewood health. this study is being conducted to determine whether olanzapine or mirtazapine is more effective in preventing weight loss and appetite loss in cancer patients.

Eligibility criteria:
inclusion criteria: * • 18 years of age or older * able to provide informed consent * pathologically and/or clinically confirmed diagnosis of advanced cancer * at any point of treatment with standard chemotherapy\* o scheduled to start, have discontinued or completed, or currently receiving * greater than or equal to 5% unintentional weight loss over the previous 3-6 months, not explained by simple starvation o simple starvation is considered to be excluded when weight loss is not ameliorated by standard nutritional counseling and oral supplementation over a 2-week period). * life expectancy of at least 4 months * able to communicate well and comply with study requirements, including by phone and written logs * patients on dexamethasone will be allowed exclusion criteria: * • abnormal liver function defined as \> twice upper limit of normal * elevated qtc o ekg performed within 1 year of enrollment will be accepted * total parental nutrition (tpn) or enteral feeds (peg/pej) for \>70% of their primary source of daily calorie intake * taking marinol within 2 week of enrollment onto study
effects of amlodipine in the management of chronic heart failure

Conditions: Chronic Heart Failure

Summary: patients with congestive heart failure are usually treated with a combination of an ace inhibitor (or an at1 blocking agent), a diuretic and a beta-blocker. however, some patients remain symptomatic despite an optimal treatment with these drugs. in patients who also have coronary heart disease, nitrates or some calcium-channel blockers could help to relieve symptoms. therefore, the aim of our study is to evaluate the additional benefit induced by a second generation calcium-channel blocker, amlodipine, in patients with chronic heart failure who remain symptomatic despite an optimal treatment.

in patients with congestive heart failure, a treatment with ace inhibitor combined with digoxin and a diuretic has shown benefits on morbidity and mortality. however, 40% of these patients have persistant symptoms. the rationale for the use of calcium channel blockers in patients with chronic heart failure lies in their vasodilating action, antiischemic effect, ability to reduce left ventricular diastolic dysfunction. the objective of our study is to evaluate the regional and systemic hemodynamic, hormonal and vascular effects and the tolerance to stress test of a 3-months treatment with amlodipine. patients with stable chronic heart failure (iii/iv nyha) and treated with a combination of enalapril, furosemide and digoxin will be randomized to receive amlodipine 5 or 10 mg or a placebo for a 3-months period.

Eligibility criteria:
inclusion criteria: * patients over 18 years * chronic heart failure with new york heart association class iii or iv. * ischemic or dilated cardiopathy known for at least 3 months * systolic arterial pressure \> 110 mmhg under treatment * stroke volume between 20 and 40% under treatment * informed written consent exclusion criteria: * history of allergy to one of the studied pharmaceutical classes * history of troubles in ventricular rythm (tachycardia, fibrillation) or acute heart failure * chronic renal, hepatic or respiratory failure * diabetes * valvulopathy * myocarditis,constrictive pericarditis * life prognosis \< 6 months due to a non cardiac pathology * absence of woman contraception, pregnancy, breast-feeding * treatment with calcium channel blockers or antiarrythmics class ic * unstable patient under standardized treatment * unable to do a stress test

Keywords: calcium channel blockers heart failure hemodynamics